Mutagenetix > Incidental Mutations

Incidental Mutation 'R1859:Mst1'

204229

Institutional Source

Beutler Lab

Gene Symbol

Mst1

Ensembl Gene

ENSMUSG00000032591

Gene Name

macrophage stimulating 1 (hepatocyte growth factor-like)

Synonyms

D9H3F15S2, DNF15S2h, D3F15S2h, Hgfl

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1859 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108084346 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 601 (V601I)

Ref Sequence

ENSEMBL: ENSMUSP00000035211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000162886] [ENSMUST00000178267] [ENSMUST00000193254]

Predicted Effect

probably benign
Transcript: ENSMUST00000035211
AA Change: V601I

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: V601I

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	8.57e-46	SMART
KR	290	372	7.94e-41	SMART
KR	377	459	6.59e-47	SMART
Tryp_SPc	488	709	2.27e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081309

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590

Domain	Start	End	E-Value	Type
Pfam:DLH	485	721	2e-8	PFAM
Pfam:Abhydrolase_1	501	633	3.8e-9	PFAM
Pfam:Abhydrolase_5	501	708	5e-16	PFAM
Pfam:Peptidase_S9	516	732	1.6e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159136

Predicted Effect

probably benign
Transcript: ENSMUST00000159372

Predicted Effect

probably benign
Transcript: ENSMUST00000160184

Predicted Effect

probably benign
Transcript: ENSMUST00000160249

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160649

SMART Domains

Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161253
AA Change: V14I

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

probably benign
Transcript: ENSMUST00000162886
AA Change: V592I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: V592I

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	1.07e-46	SMART
KR	281	363	7.94e-41	SMART
KR	368	450	6.59e-47	SMART
Tryp_SPc	479	700	2.27e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178267

SMART Domains

Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

probably benign
Transcript: ENSMUST00000193254

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590

Domain	Start	End	E-Value	Type
Pfam:DLH	485	721	4.8e-8	PFAM
Pfam:Abhydrolase_5	501	708	5.7e-16	PFAM
Pfam:Abhydrolase_6	503	714	6.2e-14	PFAM
Pfam:Peptidase_S9	515	732	1.4e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lipid-filled cytoplasmic vacuoles in hepatocytes throughout the liver lobules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,670,834		probably benign	Het
9930021J03Rik	A	C	19: 29,754,923	C230G	possibly damaging	Het
Adcy10	A	G	1: 165,521,961	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499	D597G	probably benign	Het
Alpk1	T	A	3: 127,681,100	H418L	possibly damaging	Het
Ano5	G	T	7: 51,546,833	V138L	probably damaging	Het
Aspg	T	A	12: 112,121,172	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,749,920	T970A	possibly damaging	Het
C4b	T	A	17: 34,735,553	M881L	probably benign	Het
Cd209c	A	T	8: 3,944,953	N70K	probably benign	Het
Cdca5	T	C	19: 6,090,094	V95A	possibly damaging	Het
Cds2	A	G	2: 132,302,195	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,396,630	G2371S	probably damaging	Het
Chd5	T	A	4: 152,380,523	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,834	E266K	probably damaging	Het
Crtam	G	A	9: 40,973,604	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,437,886	S3298P	probably damaging	Het
Dok1	A	T	6: 83,032,245	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,353,604	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,718	K710R	probably benign	Het
Dse	T	C	10: 34,153,229	T622A	probably benign	Het
Ercc6	T	C	14: 32,526,778	S429P	probably damaging	Het
Fam135a	A	T	1: 24,030,225	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,193	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,515,418	I683T	probably damaging	Het
Foxc2	G	T	8: 121,116,625	R4L	probably damaging	Het
Glyctk	C	T	9: 106,157,532	V112I	probably benign	Het
Gm4981	A	G	10: 58,235,780	V204A	probably benign	Het
Guf1	G	T	5: 69,568,460	G481*	probably null	Het
Heatr1	T	C	13: 12,403,159	L324S	probably damaging	Het
Hectd1	A	G	12: 51,806,567	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,657,193	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifit1	T	A	19: 34,647,544	F27I	probably benign	Het
Ift20	G	T	11: 78,540,034	E68*	probably null	Het
Itsn1	A	G	16: 91,889,154		probably benign	Het
Ksr2	T	A	5: 117,414,941	L38Q	probably damaging	Het
Lama2	A	T	10: 27,031,082	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 141,207,508	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map3k9	A	T	12: 81,724,482	S800R	possibly damaging	Het
Mef2a	A	G	7: 67,266,018	S179P	probably damaging	Het
Micall1	A	G	15: 79,122,945		probably benign	Het
Mpg	A	G	11: 32,231,957		probably null	Het
Mpp7	A	T	18: 7,350,967	*577K	probably null	Het
Msh4	G	T	3: 153,905,880	H35Q	probably benign	Het
Myh10	T	A	11: 68,745,413	N246K	probably benign	Het
Myom3	C	A	4: 135,779,396	N493K	probably benign	Het
Mypn	T	C	10: 63,146,190	D537G	probably benign	Het
Ncan	A	T	8: 70,115,348	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474	H277Q	probably benign	Het
Nos1	A	T	5: 117,905,462	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,488,795	V794I	probably benign	Het
Olfr1099	T	C	2: 86,959,081	I126V	probably damaging	Het
Olfr1390	T	C	11: 49,341,384	L284P	probably damaging	Het
Olfr1495	T	A	19: 13,768,724	Y127*	probably null	Het
Olfr156	A	T	4: 43,820,779	I194N	possibly damaging	Het
Olfr45	T	A	7: 140,691,658	V251E	possibly damaging	Het
Parp4	T	C	14: 56,648,915	V1817A	unknown	Het
Pfdn1	C	A	18: 36,451,100	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,733,611	N253S	probably damaging	Het
Prdm5	A	G	6: 65,831,279	I42V	probably benign	Het
Prom2	T	G	2: 127,541,097	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,388,870	D669G	possibly damaging	Het
Rag1	T	C	2: 101,644,062	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,806,598		probably null	Het
Sars2	T	C	7: 28,744,312	V113A	probably damaging	Het
Sbno2	T	A	10: 80,058,639	K1067*	probably null	Het
Sec61g	A	G	11: 16,506,371		probably null	Het
Slc4a11	A	T	2: 130,688,012	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,166,735	S242P	probably benign	Het
Sparc	A	T	11: 55,406,508		probably null	Het
Thra	T	A	11: 98,756,151	C33S	probably damaging	Het
Tmem2	T	C	19: 21,847,977	V1213A	possibly damaging	Het
Trrap	A	T	5: 144,830,951	T2293S	probably benign	Het
Ttn	T	A	2: 76,894,645		probably benign	Het
Vat1l	T	A	8: 114,271,301	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,544,550	I184F	possibly damaging	Het
Wdfy4	A	G	14: 33,103,983	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,280,386	S737P	possibly damaging	Het
Zfp553	A	G	7: 127,235,345	E24G	probably benign	Het
Zscan30	A	G	18: 23,971,467		noncoding transcript	Het

Other mutations in Mst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Mst1	APN	9	108081601	missense	probably benign	0.03
IGL01380:Mst1	APN	9	108084588	missense	probably damaging	1.00
IGL01420:Mst1	APN	9	108082828	missense	probably damaging	0.99
IGL02931:Mst1	APN	9	108084642	splice site	probably null
IGL03059:Mst1	APN	9	108084813	missense	probably damaging	1.00
IGL03275:Mst1	APN	9	108084388	missense	possibly damaging	0.70
R0319:Mst1	UTSW	9	108082513	missense	probably benign	0.05
R0361:Mst1	UTSW	9	108084897	missense	probably damaging	0.98
R0412:Mst1	UTSW	9	108083594	missense	probably benign	0.06
R0569:Mst1	UTSW	9	108082301	missense	probably damaging	0.98
R1432:Mst1	UTSW	9	108084204	missense	probably benign	0.01
R1483:Mst1	UTSW	9	108081650	missense	probably benign	0.03
R2187:Mst1	UTSW	9	108084340	missense	possibly damaging	0.63
R2393:Mst1	UTSW	9	108082952	critical splice donor site	probably null
R3522:Mst1	UTSW	9	108081503	unclassified	probably benign
R3916:Mst1	UTSW	9	108084295	missense	probably benign	0.00
R3917:Mst1	UTSW	9	108084295	missense	probably benign	0.00
R3945:Mst1	UTSW	9	108084853	missense	probably damaging	1.00
R4006:Mst1	UTSW	9	108082948	missense	possibly damaging	0.52
R4007:Mst1	UTSW	9	108082948	missense	possibly damaging	0.52
R4737:Mst1	UTSW	9	108080521	missense	probably benign	0.00
R4756:Mst1	UTSW	9	108083627	missense	probably benign	0.28
R5047:Mst1	UTSW	9	108084309	missense	probably benign	0.17
R5113:Mst1	UTSW	9	108082247	missense	probably damaging	1.00
R5278:Mst1	UTSW	9	108082215	missense	probably damaging	0.99
R5279:Mst1	UTSW	9	108082215	missense	probably damaging	0.99
R5402:Mst1	UTSW	9	108084209	critical splice donor site	probably null
R5677:Mst1	UTSW	9	108081286	missense	probably damaging	0.98
R5712:Mst1	UTSW	9	108082908	missense	probably damaging	1.00
R6717:Mst1	UTSW	9	108080575	splice site	probably null
R7059:Mst1	UTSW	9	108084064	missense	probably benign	0.44
R7131:Mst1	UTSW	9	108084931	missense	probably null	0.07
R7139:Mst1	UTSW	9	108082828	missense	probably damaging	0.99
R7219:Mst1	UTSW	9	108081286	missense	probably damaging	0.99
R7501:Mst1	UTSW	9	108082549	missense	probably damaging	1.00
R7878:Mst1	UTSW	9	108084613	missense	probably benign
R8304:Mst1	UTSW	9	108081604	missense	probably benign
R8397:Mst1	UTSW	9	108081499	critical splice donor site	probably benign
R8715:Mst1	UTSW	9	108082043	missense	possibly damaging	0.95
X0028:Mst1	UTSW	9	108082217	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCAGCTTGTTCTGCTCAAG -3'
(R):5'- CCTGGGTGCATATCTCACTC -3'

Sequencing Primer
(F):5'- TCTGCTCAAGCTGGAGAGG -3'
(R):5'- GATGACATTCATCGAGGCCACATG -3'

Posted On

2014-06-23